Dr. Mustafa A Salih, MD, Dr Med Sci - King Saud University - Professor

Dr. Mustafa A Salih

MD, Dr Med Sci

King Saud University

Professor

Riyadh, Central Region | Saudi Arabia

Main Specialties: Pediatrics

Additional Specialties: Pediatric Neurology, Neurogenetics, Neuromuscular Disorders

ORCID logohttps://orcid.org/0000-0002-4379-2111

Dr. Mustafa A Salih, MD, Dr Med Sci - King Saud University - Professor

Dr. Mustafa A Salih

MD, Dr Med Sci

Introduction

Primary Affiliation: King Saud University - Riyadh, Central Region , Saudi Arabia

Specialties:

Additional Specialties:


View Dr. Mustafa A Salih’s Resume / CV

Education

Jan 1990
Uppsala Universitet
Doctor of Medical Sciences
Dec 1982
University of Khartoum
Doctor of Medicine
Apr 1980
University of Khartoum
Master of Paediatrics and Child Health
Jul 1968 - Nov 1974
University of Khartoum Faculty of Medicine
Jan 1964 - Jan 1968
Secondary School
Jan 1956 - Jan 1964
Elementary and intermediate schools
Jan 1985
ECFMG
Educational Commission for Foreign Medical Graduates (ECFMG) Certificate

Experience

Jan 1990 - Jan 1991
University of Khartoum Faculty of Medicine
Professor of Paediatrics
Department of Paediatrics
Jan 1980 - Jan 1991
Khartoum Teaching Hospital (KTH), Soba University Hospital (SUH) and Children Emergency hospital (CEH)
Consultant Paediatrician
Paediatrics
Jan 1977 - Jan 1980
Khartoum Teaching Hospital (KTH), Soba University Hospital (SUH) and Children Emergency hospital (CEH)
Paediatric Registrar
Paediatrics
Jan 1975 - Jan 1976
El Buluk Teaching Hospital
Medical Officer in Paediatrics
Paediatrics
Jan 1974 - Jan 1975
Khartoum Teaching Hospital (KTH) and Soba University Hospital (SUH)
House Officer
Departments of Surgery, Obstetrics and Gynecology, Medicine and Paediatrics
Jan 1993
King Saud University College of Medicine
Professor of Paediatrics
Paediatrics
Jan 1992
King Saud University College of Medicine
Consultant Paediatric Neurologist
Department of Paediatrics
Jan 1985
University of Khartoum Faculty of Medicine
Associate Professor
Department of Paediatrics
Jan 1980
University of Khartoum Faculty of Medicine
Lecturer
Department of Paediatrics

Publications

242Publications

5390Reads

143Profile Views

1302PubMed Central Citations

Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.

BMC Med Genet 2018 05 8;19(1):72. Epub 2018 May 8.

Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris VI UMR_S1127, 75013, Paris, France.

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http://dx.doi.org/10.1186/s12881-018-0592-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5941609PMC
May 2018
21 Reads
2.083 Impact Factor

Auto-immune anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis: three case reports.

Paediatr Int Child Health 2017 Aug 22;37(3):222-226. Epub 2016 Jun 22.

a Division of Pediatric Neurology.

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http://dx.doi.org/10.1080/20469047.2016.1191852DOI Listing
August 2017
58 Reads
0.871 Impact Factor

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

J Hum Genet 2017 Feb 6;62(2):243-252. Epub 2016 Oct 6.

Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA.

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http://dx.doi.org/10.1038/jhg.2016.116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5266644PMC
February 2017
105 Reads
4 Citations
2.462 Impact Factor

Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.

Brain 2016 12 14;139(Pt 12):3109-3120. Epub 2016 Oct 14.

1 The Institute of Basic Medical Sciences, Department of Molecular Medicine, University of Oslo, Oslo, Norway

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http://dx.doi.org/10.1093/brain/aww244DOI Listing
December 2016
96 Reads
1 Citation
9.200 Impact Factor

Acute poisoning in a child following topical treatment of head lice (pediculosis capitis) with an organophosphate pesticide.

Sudan J Paediatr 2016 ;16(1):63-6

Division of Pediatric Neurology, College of Medicine and King Saud University Medical City, King Saud University , Riyadh , Saudi Arabia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5025936PMC
September 2016
41 Reads

Duane retraction syndrome in a patient with Duchenne muscular dystrophy.

Ophthalmic Genet 2016 09 5;37(3):276-80. Epub 2016 Feb 5.

a Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia.

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http://dx.doi.org/10.3109/13816810.2015.1039139DOI Listing
September 2016
53 Reads
1.233 Impact Factor

Risk factors for neural tube defects in Riyadh City, Saudi Arabia: Case-control study.

Sudan J Paediatr 2014 ;14(2):49-60

(5) Epidemiology Research Unit, Department of Biostatistics, Epidemiology and Scientific Computing, Research Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. (Currently, WHO Representative, Saudi Arabia).

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949798PMC
August 2016
41 Reads
3 Citations

Sturge-Weber syndrome: Continued vigilance is needed.

Sudan J Paediatr 2015 ;15(2):63-70

(1) Division of Pediatric Neurology, College of Medicine and King Saud University Medical City, King Saud University , Riyadh , Saudi Arabia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958665PMC
August 2016
25 Reads

Acute phase reactants in Sudanese children with severe protein-energy malnutrition.

Sudan J Paediatr 2011 ;11(1):48-59

(3) The Central Laboratory , Uppsalla University , Sweden.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949782PMC
August 2016
46 Reads

Infection and immunoglobulin levels in Sudanese children with severe protein-energy malnutrition.

Sudan J Paediatr 2011 ;11(2):32-42

3. The Central Laboratory , Uppsalla University , Sweden.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949832PMC
August 2016
32 Reads
1 Citation

A null mutation in TNIK defines a novel locus for intellectual disability.

Hum Genet 2016 07 22;135(7):773-8. Epub 2016 Apr 22.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s00439-016-1671-9DOI Listing
July 2016
35 Reads
2 Citations
4.824 Impact Factor

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report.

BMC Neurol 2016 Jul 15;16:105. Epub 2016 Jul 15.

Developmental Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1186/s12883-016-0633-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947274PMC
July 2016
74 Reads
5 Citations
2.040 Impact Factor

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Am J Hum Genet 2016 06 26;98(6):1249-1255. Epub 2016 May 26.

Children's Health Research Center, Sanford Research, Sioux Falls, SD 57104, USA; Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85004, USA; Neurogenetics Research Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Program in Neuroscience, Arizona State University, Tempe, AZ 85287, USA; Pediatric Movement Disorders Center, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908178PMC
June 2016
59 Reads
5 Citations
10.931 Impact Factor

Novel copy number variants and major limb reduction malformation: Report of three cases.

Am J Med Genet A 2016 May 8;170A(5):1245-50. Epub 2016 Jan 8.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.37550DOI Listing
May 2016
51 Reads
2.160 Impact Factor

A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease.

Ann Neurol 2016 Feb 19;79(2):335-7. Epub 2016 Jan 19.

Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France.

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http://dx.doi.org/10.1002/ana.24591DOI Listing
February 2016
94 Reads
4 Citations
9.980 Impact Factor

Glutaric aciduria type 1 as a cause of dystonic cerebral palsy.

Saudi Med J 2015 Nov;36(11):1354-7

Department of Pediatrics (39), College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia. E-mail.

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http://dx.doi.org/10.15537/smj.2015.11.12132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4673376PMC
November 2015
64 Reads
1 Citation
0.554 Impact Factor

The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.

Genet Med 2015 Sep 11;17(9):719-25. Epub 2014 Dec 11.

Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1038/gim.2014.184DOI Listing
September 2015
65 Reads
4 Citations
7.330 Impact Factor

Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit.

Clin Genet 2015 20;87(1):56-61. Epub 2013 Dec 20.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1111/cge.12325DOI Listing
August 2015
8 Reads
2 Citations
3.931 Impact Factor

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.

Tremor Other Hyperkinet Mov (N Y) 2015 9;5:306. Epub 2015 Jul 9.

Division of Medical Genetics, Sanford Children's Hospital, Sioux Falls, SD, USA ; Sanford Children's Health Research Center, Sanford Research Sioux Falls, SD, USA ; Sanford Neurogenetics & Neurometabolic Disorders Clinic and Pediatric Movement Disorders Clinic, Division of Pediatric Neurology, Sanford Children's Specialty Clinic Sioux Falls, SD, USA ; Departments of Pediatrics & Neurosciences, Sanford College of Medicine, University of South Dakota, Vermillion, SD, USA ; Department of Chemistry & Biochemistry, South Dakota State University, Brookings, SD, USA ; University of Arizona College of Medicine, Department of Child Health, Phoenix, AZ ; Barrow Neurological Institute and Ronald A. Matricaria Institute for Molecular Medicine, Phoenix Children's Hospital, Phoenix, AZ.

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http://dx.doi.org/10.7916/D8D21WQ0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4502426PMC
July 2015
50 Reads
2 Citations

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Cell Rep 2015 Jan 31;10(2):148-61. Epub 2014 Dec 31.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.12.015DOI Listing
January 2015
120 Reads
58 Citations
7.210 Impact Factor

Bilateral congenital entropion with cutis laxa.

Pediatr Dermatol 2014 May-Jun;31(3):e82-4. Epub 2014 Feb 11.

Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1111/pde.12255DOI Listing
December 2014
26 Reads
1.520 Impact Factor

Genetic, chromosomal, and syndromic causes of neural tube defects.

Saudi Med J 2014 Dec;35 Suppl 1:S49-56

Department of Pediatrics, Security Forces Hospital, Riyadh 11481, Kingdom of Saudi Arabia. E-mail:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362101PMC
December 2014
43 Reads
3 Citations
0.554 Impact Factor

Classification, clinical features, and genetics of neural tube defects.

Saudi Med J 2014 Dec;35 Suppl 1:S5-S14

Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia. E-mail:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362100PMC
December 2014
42 Reads
4 Citations
0.554 Impact Factor

Message from the guest editor.

Authors:
Mustafa A Salih

Saudi Med J 2014 Dec;35 Suppl 1:S2

Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia. E-mail:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362097PMC
December 2014
22 Reads
0.554 Impact Factor

Epidemiology of neural tube defects.

Saudi Med J 2014 Dec;35 Suppl 1:S29-35

Department of Pediatrics, Security Forces Hospital, Riyadh 11481, Kingdom of Saudi Arabia. E-mail:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362102PMC
December 2014
47 Reads
9 Citations
0.554 Impact Factor

Neural tube defects. Challenging, yet preventable.

Authors:
Mustafa A Salih

Saudi Med J 2014 Dec;35 Suppl 1:S3-4

Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia. E-mail:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362093PMC
December 2014
7 Reads
1 Citation
0.554 Impact Factor

Split cord malformation associated with spinal open neural tube defect.

Saudi Med J 2014 Dec;35 Suppl 1:S44-8

Neurosurgery Division, Institute of Surgery, Sheikh Khalifa Medical City, PO Box 51900, Abu Dhabi, United Arab Emirates. E-mail:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362105PMC
December 2014
26 Reads
2 Citations
0.554 Impact Factor

Sirenomelia and severe caudal regression syndrome.

Saudi Med J 2014 Dec;35 Suppl 1:S36-43

Department of Pediatrics, Security Forces Hospital, Riyadh 11481, Kingdom of Saudi Arabia. E-mail:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362094PMC
December 2014
37 Reads
3 Citations
0.554 Impact Factor

Epidemiology, prenatal management, and prevention of neural tube defects.

Saudi Med J 2014 Dec;35 Suppl 1:S15-28

Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia. E-mail:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362104PMC
December 2014
18 Reads
5 Citations
0.554 Impact Factor

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.

Hum Mol Genet 2014 Nov 11;23(21):5781-92. Epub 2014 Jun 11.

Department of Pharmacology and Physiology and Integrative Systems Biology, The George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA,

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http://dx.doi.org/10.1093/hmg/ddu296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4189906PMC
November 2014
51 Reads
10 Citations
6.393 Impact Factor

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

Cell Rep 2014 Aug 24;8(3):647-55. Epub 2014 Jul 24.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815-6789, USA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.06.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4334362PMC
August 2014
45 Reads
14 Citations
7.210 Impact Factor

Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report.

Authors:
Mustafa A Salih

Mohamed S1, Osman A, Al Jurayyan NA, Al Nemri A, Salih MA. Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report. BMC Res Notes. 2014 Mar 28;7(1):184. doi: 10.1186/1756-0500-7-184.

BMC Res Notes

http://www.biomedcentral.com/1756-0500/7/184

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March 2014
24 Reads

C19orf12 mutation leads to a pallido-pyramidal syndrome.

Gene 2014 Mar 17;537(2):352-6. Epub 2013 Dec 17.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.gene.2013.11.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422067PMC
March 2014
60 Reads
4 Citations
2.140 Impact Factor

Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report.

BMC Res Notes 2014 Mar 28;7:184. Epub 2014 Mar 28.

Department of Pediatrics (39), College of Medicine, King Saud University, P,O, Box 2925, 11461 Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1186/1756-0500-7-184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3986852PMC
March 2014
32 Reads
3 Citations

Bilateral Congenital Entropion with Cutis Laxa

Al-Faky YH, Salih MA, Mubarak M, Al-Rikabi AC. Bilateral Congenital Entropion with Cutis Laxa. Pediatr Dermatol. 2014 Feb 11. doi: 10.1111/pde.12255. [Epub ahead of print]

Pediatric Dermatology

http://onlinelibrary.wiley.com/doi/10.1111/pde.12255/abstract;jsessionid=436498BDA35CC6AE7565C0AB9A8E7187.f04t02

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February 2014
32 Reads

Ophthalmologic observations in a patient with partial mosaic trisomy 8.

Ophthalmic Genet 2013 Dec 13;34(4):249-53. Epub 2013 Feb 13.

Department of Ophthalmology and.

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http://dx.doi.org/10.3109/13816810.2012.762933DOI Listing
December 2013
37 Reads
1.233 Impact Factor

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Travaglini, L., Brancati, F., Silhavy, J., Iannicelli, M., Nickerson, E., Elkhartoufi, N., Scott E., Spencer E., Gabriel S., Thomas S., Ben-Zeev B., Bertini E., Boltshauser E., Chaouch M., Cilio MR., de Jong M. M., Kayserili H., Ogur G., Poretti A., Signorini S., Uziel G., Zaki M. S., International

Eur J Hum Genet

http://www.nature.com/ejhg/journal/v21/n10/full/ejhg2012305a.html

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October 2013
3 Reads

Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder.

Ophthalmic Genet 2013 Mar-Jun;34(1-2):90-6. Epub 2012 Sep 6.

Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.3109/13816810.2012.718850DOI Listing
August 2013
19 Reads
2 Citations
1.233 Impact Factor

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.

J Med Genet 2013 Jul 25;50(7):425-30. Epub 2013 Apr 25.

Developmental Genetics Unit, King Faisal Specialist Hospital and Research Center, MBC-03 PO BOX 3354, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1136/jmedgenet-2012-101378DOI Listing
July 2013
47 Reads
17 Citations
6.340 Impact Factor

A newly recognized autosomal recessive syndrome affecting neurologic function and vision.

Am J Med Genet A 2013 Jun 30;161A(6):1207-13. Epub 2013 Apr 30.

Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.35850DOI Listing
June 2013
38 Reads
2.160 Impact Factor

Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis.

Hum Mol Genet 2013 Jun 14;22(11):2200-13. Epub 2013 Feb 14.

Department of Genetics, Developmental Genetics Unit.

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http://dx.doi.org/10.1093/hmg/ddt072DOI Listing
June 2013
29 Reads
16 Citations
6.393 Impact Factor

Sleep-disordered breathing in children with craniosynostosis.

Sleep Breath 2013 Mar 26;17(1):389-93. Epub 2012 Apr 26.

Department of Pediatrics, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s11325-012-0706-2DOI Listing
March 2013
32 Reads
2 Citations
2.870 Impact Factor

Preimplantation genetic diagnosis in isolated sulfite oxidase deficiency.

Can J Neurol Sci 2013 Jan;40(1):109-12

Pediatric (Neurology) Department, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1017/s0317167100013081DOI Listing
January 2013
47 Reads
1 Citation
1.600 Impact Factor

A novel syndrome of lethal familial hyperekplexia associated with brain malformation.

BMC Neurol 2012 Oct 27;12:125. Epub 2012 Oct 27.

Division of Pediatric Neurology, Department of Pediatrics (39), College of Medicine, King Saud University, P. O. Box 2925, Riyadh, 11461, Saudi Arabia.

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http://dx.doi.org/10.1186/1471-2377-12-125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3488335PMC
October 2012
45 Reads
3 Citations
2.040 Impact Factor

Molecular characterization of Joubert syndrome in Saudi Arabia.

Hum Mutat 2012 Oct 11;33(10):1423-8. Epub 2012 Jul 11.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/humu.22134DOI Listing
October 2012
52 Reads
18 Citations
5.144 Impact Factor

Prominent corneal nerves: a novel sign of lipoid proteinosis.

Br J Ophthalmol 2012 Jul 12;96(7):935-40. Epub 2012 May 12.

Ophthalmology Department, College of Medicine, King Saud University, PO Box 245, Riyadh 11411, Saudi Arabia.

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http://dx.doi.org/10.1136/bjophthalmol-2012-301617DOI Listing
July 2012
25 Reads
2.980 Impact Factor

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.

J Med Genet 2012 Apr;49(4):234-41

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1136/jmedgenet-2012-100836DOI Listing
April 2012
7 Reads
37 Citations
6.340 Impact Factor

The neurology of carbonic anhydrase type II deficiency syndrome.

Brain 2011 Dec 26;134(Pt 12):3502-15. Epub 2011 Nov 26.

Department of Ophthalmology and Paediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1093/brain/awr302DOI Listing
December 2011
47 Reads
5 Citations
9.200 Impact Factor

When straight eyes won't move: phenotypic overlap of genetically distinct ocular motility disturbances.

Can J Ophthalmol 2011 Dec;46(6):477-80

Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.jcjo.2011.09.009DOI Listing
December 2011
3 Reads
1.300 Impact Factor

Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: report of four new cases with renal involvement.

Am J Med Genet A 2011 Jun 12;155A(6):1393-7. Epub 2011 May 12.

Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.33966DOI Listing
June 2011
46 Reads
3 Citations
2.160 Impact Factor

Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.

J Neuroophthalmol 2011 Mar;31(1):42-7

Department of Pediatrics, College of Medicine, King Saud University, Division of Neurophysiology, Department of Neuroscience, Armed Forces Hospital, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1097/WNO.0b013e3181f50beaDOI Listing
March 2011
23 Reads
2 Citations
1.810 Impact Factor

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.

BMC Med Genet 2011 Feb 24;12:31. Epub 2011 Feb 24.

Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1186/1471-2350-12-31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3050790PMC
February 2011
58 Reads
5 Citations
2.083 Impact Factor

Optic disk and white matter abnormalities in a patient with a de novo 18p partial monosomy.

Ophthalmic Genet 2010 Sep;31(3):147-54

Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.3109/13816810.2010.492817DOI Listing
September 2010
36 Reads
1 Citation
1.233 Impact Factor

A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation.

BMC Med Genet 2010 Sep 21;11:135. Epub 2010 Sep 21.

Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1186/1471-2350-11-135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2946294PMC
September 2010
63 Reads
5 Citations
2.083 Impact Factor

Spinocerebellar ataxia with axonal neuropathy.

Adv Exp Med Biol 2010 ;685:75-83

Department of Medical Genetics, Provincial Medical Genetics Program, Child and Family Research Institute, Children's and Women's Health Centre of British Columbia, University of British Columbia Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1007/978-1-4419-6448-9_7DOI Listing
August 2010
37 Reads
1 Citation

Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.

Brain 2010 Aug;133(Pt 8):2439-47

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/Université de Strasbourg, et Collège de France, 67404 Illkirch, France.

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http://dx.doi.org/10.1093/brain/awq181DOI Listing
August 2010
27 Reads
5 Citations
9.200 Impact Factor

Megalencephalic leukoencephalopathy with cysts without MLC1 defect.

Ann Neurol 2010 Jun;67(6):834-7

Department of Child Neurology, VU University Medical Center, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1002/ana.21980DOI Listing
June 2010
41 Reads
9 Citations
9.980 Impact Factor

Ophthalmologic abnormalities in a de novo terminal 6q deletion.

Ophthalmic Genet 2010 Mar;31(1):1-11

Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.3109/13816810903312535DOI Listing
March 2010
29 Reads
4 Citations
1.233 Impact Factor

A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease.

Neurogenetics 2009 Jul 12;10(3):265-70. Epub 2009 Feb 12.

Département de Génétique et Cytogénétique, U.F. de Neurogénétique, Assistance Publique Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1007/s10048-009-0174-4DOI Listing
July 2009
27 Reads
6 Citations
2.884 Impact Factor

Ophthalmic features of Joubert syndrome.

Ophthalmology 2008 Dec;115(12):2286-9

Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.1016/j.ophtha.2008.08.005DOI Listing
December 2008
45 Reads
13 Citations
6.135 Impact Factor

The clinical spectrum of homozygous HOXA1 mutations.

Am J Med Genet A 2008 May;146A(10):1235-40

The Neuro-ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.32262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517166PMC
May 2008
50 Reads
26 Citations
2.160 Impact Factor

Ophthalmic features of ataxia telangiectasia-like disorder.

J AAPOS 2008 Apr 21;12(2):186-9. Epub 2007 Dec 21.

Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.jaapos.2007.09.016DOI Listing
April 2008
44 Reads
3 Citations
1.142 Impact Factor

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

Hum Genet 2007 Jul 14;121(6):685-90. Epub 2007 Apr 14.

Department of Human Genetics 855, Radboud University Nijmegen Medical Center, Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s00439-007-0362-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1914248PMC
July 2007
59 Reads
39 Citations
4.824 Impact Factor

Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1.

Arch Neurol 2006 Sep;63(9):1257-61

Institut National de la Santé et de la Recherche Médicale U679, Assistance Publique, Hôpitaux de Paris, Faculté de Médecine, Université Paris 6-Pierre et Marie Curie, Hôpital de la Pitié-Salpêtrière, 47 Blvd. de l'Hôpital, 75651 Paris CEDEX 13, France.

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http://dx.doi.org/10.1001/archneur.63.9.1257DOI Listing
September 2006
41 Reads
11 Citations
7.420 Impact Factor

Stroke in Saudi children. Epidemiology, clinical features and risk factors.

Saudi Med J 2006 Mar;27 Suppl 1:S12-20

Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia.

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March 2006
49 Reads
7 Citations
0.550 Impact Factor

Diagnostic approach and management strategy of childhood stroke.

Saudi Med J 2006 Mar;27 Suppl 1:S4-11

Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia.

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March 2006
38 Reads
0.554 Impact Factor

Hematologic risk factors for stroke in Saudi children.

Saudi Med J 2006 Mar;27 Suppl 1:S21-34

Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia.

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March 2006
36 Reads
0.550 Impact Factor

Stroke due to mitochondrial disorders in Saudi children.

Saudi Med J 2006 Mar;27 Suppl 1:S81-90

Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia.

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March 2006
29 Reads
0.554 Impact Factor

Study project on stroke in Saudi children. Conclusions, recommendations and acknowledgements.

Saudi Med J 2006 Mar;27 Suppl 1:S108-10

Division of Pediatric Neurology, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia.

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March 2006
7 Reads
0.550 Impact Factor

Stroke from systemic vascular disorders in Saudi children. The devastating role of hypernatremic dehydration.

Saudi Med J 2006 Mar;27 Suppl 1:S97-102

Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia.

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March 2006
4 Reads
1 Citation
0.554 Impact Factor

Moyamoya syndrome as a risk factor for stroke in Saudi children. Novel and usual associations.

Saudi Med J 2006 Mar;27 Suppl 1:S69-80

Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia.

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March 2006
31 Reads
0.554 Impact Factor

Stroke from cervicocephalic arterial dissection in Saudi children.

Saudi Med J 2006 Mar;27 Suppl 1:S103-7

Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia.

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March 2006
48 Reads
0.550 Impact Factor

Perinatal stroke in Saudi children. Clinical features and risk factors.

Saudi Med J 2006 Mar;27 Suppl 1:S35-40

Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia.

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March 2006
31 Reads
2 Citations
0.554 Impact Factor

Outcome of stroke in Saudi children.

Saudi Med J 2006 Mar;27 Suppl 1:S91-6

Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia.

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March 2006
52 Reads
3 Citations
0.554 Impact Factor

Brain stem and cerebellar findings in Joubert syndrome.

J Comput Assist Tomogr 2006 Jan-Feb;30(1):116-21

Department of Radiology & Medical Imaging, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1097/01.rct.0000191681.05473.13DOI Listing
February 2006
36 Reads
7 Citations
1.600 Impact Factor

Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.

Nat Genet 2005 Oct 11;37(10):1035-7. Epub 2005 Sep 11.

Department of Medicine, Program in Genomics, Children's Hospital Boston, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1038/ng1636DOI Listing
October 2005
42 Reads
69 Citations
29.350 Impact Factor

Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry.

Biomed Chromatogr 2005 Apr;19(3):223-30

Department of Genetics, King Faisal Specialist Hospital and Research Centre, PO Box 3354, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1002/bmc.439DOI Listing
April 2005
68 Reads
2 Citations
1.720 Impact Factor

Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder.

Hum Mol Genet 2005 Jan 1;14(2):307-18. Epub 2004 Dec 1.

DNA Repair Team, International Agency for Research on Cancer, Lyon, France.

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http://dx.doi.org/10.1093/hmg/ddi027DOI Listing
January 2005
35 Reads
27 Citations
6.390 Impact Factor

Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene.

Hum Mol Genet 2003 Aug;12(15):1917-25

Division of Clinical Neurology and Department of Molecular Pathogenesis, Institute of Neurology, Queen Square, London, WC1N 3BG, UK

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http://dx.doi.org/10.1093/hmg/ddg198DOI Listing
August 2003
34 Reads
15 Citations
6.390 Impact Factor

Non paraneoplastic opsoclonus - myoclonus syndrome.

Neurosciences (Riyadh) 2003 Apr;8(2):120-2

Division of Neurosciences, Department of Medicine, King Khalid University Hospital, PO Box 7805 (38), Riyadh 11472, Kingdom of Saudi Arabia. Tel. +966 (1) 4671532. Fax. +966 (1) 4672424. E-mail:

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April 2003
42 Reads
0.391 Impact Factor

Compliance with appointment and medications in a pediatric neurology clinic at a University Hospital in Riyadh, Saudi Arabia.

Neurosciences (Riyadh) 2002 Oct;7(4):287-92

Department of Family & Community Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia.

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October 2002
28 Reads
1 Citation
0.391 Impact Factor

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.

Nat Genet 2002 Oct 16;32(2):267-72. Epub 2002 Sep 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1038/ng987DOI Listing
October 2002
39 Reads
141 Citations
29.350 Impact Factor

Compliance with appointments and medications in a pediatric neurology clinic at a University Hospital in Riyadh, Saudi Arabia.

Saudi Med J 2002 Aug;23(8):969-74

Department of Family & Community Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia.

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August 2002
29 Reads
1 Citation
0.550 Impact Factor

Unusual sites of diphtheritic membrane and cervical oedema

Authors:
Mustafa A Salih

Salih MAM, Suliman GI, Hassan HS. Unusual sites of diphtheritic membrane and cervical oedema. Sudanese Journal of Paediatrics 1984 ; 3 : 52-62.

Sudanese Journal of Paediatrics

http://www.sudanjp.org/uploads/9/2/7/0/9270568/unusual_sites_of_diphtheritic_membrane_and_cervical_oedema.pdf

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1984

Laboratory diagnosis of meningitis: An overview in relation to the Sudan

Authors:
Mustafa A Salih

Salih MAM. Laboratory diagnosis of meningitis : An overview in relation to the Sudan. Sudanese Journal of Paediatrics 1984 ; 3 : 10-19

Sudanese Journal of Paediatrics

http://www.sudanjp.org/uploads/9/2/7/0/9270568/laboratory_diagnosis_of_meningitis_an_overview_in_relation_to_the_sudan.pdf

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1984

Top co-authors

Ibrahim A Alorainy
Ibrahim A Alorainy

King Khalid University Hospital

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Fowzan S Alkuraya
Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center

19
Thomas M Bosley
Thomas M Bosley

College of Medicine

17
Hamdy H Hassan
Hamdy H Hassan

Ain-Shams University

13
Darren T Oystreck
Darren T Oystreck

College of Medicine

12
Amal Y Kentab
Amal Y Kentab

King Khalid University Hospital and College of Medicine

11
Mohammed Z Seidahmed
Mohammed Z Seidahmed

Security Forces Hospital

10
Ranad Shaheen
Ranad Shaheen

King Faisal Specialist Hospital and Research Center

10
Anas M Alazami
Anas M Alazami

King Faisal Specialist Hospital and Research Center

10